Cholestasis

Gene: SLC51A

Red List (low evidence)

SLC51A (solute carrier family 51 alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000163959
EnsemblGeneIds (GRCh37): ENSG00000163959
OMIM: 612084, Gene2Phenotype
SLC51A is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. As there is only 1 case there is currently not enough evidence to support a gene-disease association. This gene has been given a Red rating.
Created: 14 Sep 2021, 9:46 a.m. | Last Modified: 14 Sep 2021, 9:46 a.m.
Panel Version: 1.87

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single individual reported with homozygous LoF variant, who presented with chronic malabsorptive diarrhoea, easy bruising, episodes of prolonged bleeding that required blood transfusions, and failure to thrive. Laboratory testing at age 2.5 years showed elevated liver transaminases and alkaline phosphatase. Liver biopsy demonstrated portal and periportal fibrosis and hepatocytes with foci of hepatocytic cholestasis. Analysis of bile acids in a blood spot were normal. Treatment with ursodiol and cholestyramine was started at 5 years of age. The coagulopathy resolved and his growth was adequate, but his liver transaminases, direct bilirubin, and GGT levels remained elevated.
Sources: Literature
Created: 11 Sep 2021, 10:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis, progressive familial intrahepatic, 6, MIM# 619484

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Cholestasis, progressive familial intrahepatic, 6, OMIM:619484
OMIM
612084
Clinvar variants
Variants in SLC51A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: slc51a has been classified as Red List (Low Evidence).

14 Sep 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SLC51A were changed from Cholestasis, progressive familial intrahepatic, 6, MIM# 619484 to ?Cholestasis, progressive familial intrahepatic, 6, OMIM:619484

11 Sep 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: SLC51A was added gene: SLC51A was added to Cholestasis. Sources: Literature Mode of inheritance for gene: SLC51A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC51A were set to 31863603 Phenotypes for gene: SLC51A were set to Cholestasis, progressive familial intrahepatic, 6, MIM# 619484 Review for gene: SLC51A was set to RED